ORPHA:216873
Atypical pantothenate kinase-associated neurodegeneration
Synonyms: NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form · PKAN, atypical form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare neurodegenerative disorder characterized by adolescent to adult-onset of slowly progressive dystonia, dysarthria, neuropsychiatric changes, parkinsonism and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Atypical pantothenate kinase-associated neurodegeneration (PKAN) has later onset and slower progression than classic PKAN and accounts for about 25% of cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical pantothenate kinase-associated neurodegeneration | NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form · PKAN, atypical form |
| fr | Neurodégénérescence par déficit en pantothénate kinase, forme atypique | NBIA1, forme atypique · Neurodégénérescence avec surcharge cérébrale en fer type 1, forme atypique · PKAN, forme atypique |
| de | Pantothenat-Kinase-assoziierte Neurodegeneration, atypische Form | NBIA1, atypische Form · Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1, atypische Form · PKAN, atypische Form |
| es | Neurodegeneración asociada a pantotenato quinasa, forma atípica | NBIA1, forma atípica · Neurodegeneración con acumulación de hierro en el cerebro tipo 1, forma atípica · PKAN, forma atípica |
| it | Neurodegenerazione associata a deficit di pantotenato chinasi, forma atipica | NBIA1, forma atipica · Neurodegenerazione con accumulo cerebrale di ferro tipo 1, forma atipica · PKAN, forma atipica |
| nl | Atypische pantothenaatkinasegeassocieerde neurodegeneratie | NBIA1, atypische vorm · Neurodegeneratie met ijzeropstapeling in de hersenen type 1, atypische vorm · PKAN, atypische vorm |
| pt | Neurodegenerescência associada a pantotenato cinase atípica | |
| pl | Atypowa neurodegeneracja związana z kinazą pantetonianu | NBIA1, postać atypowa · Neurodegeneracja z gromadzeniem żelaza w mózgu typu 1, postać atypowa · PKAN, postać atypowa |
| cs | Atypická neurodegenerace asociovaná s pantotenát-kinázou | NBIA1, atypická forma · Neurodegenerace s akumulací železa v mozku, typ 1, atypická forma · PKAN, atypická forma |
| uk | Атипова пантотенаткіназа-асоційована нейродегенерація | NBIA1, атипова форма · Нейродегенерація з накопиченням заліза в мозку, тип 1, атипова форма · PKAN, атипова форма |
| zh | 非典型泛酸激酶相关神经变性 | 非典型神经变性疾病伴脑铁积聚1型 |
| tr | Atipik pantotenat kinaz -ilişkili nörodejenerasyon | PKAN, atipik form · NBIA1, atipik form · Beyin demir birikimi tip 1 ile seyreden nörodejenerasyon, atipik form |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234200 | NTBT | validated | |
| ICD-10 | G23.0 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| MONDO | 0016305 | E | validated | |
| UMLS | C5568621 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:157850Pantothenate kinase-associated neurodegeneration
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PANK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15894 | ENSG00000125779 | 606157 | 20p13 | pantothenate kinase 2 |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
30 annotations · validated 2018-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000716 | Depression | |
| HP:0001260 | Dysarthria | |
| HP:0000712 | Emotional lability | |
| HP:0004373 | Focal dystonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0100710 | Impulsivity | |
| HP:0000737 | Irritability | |
| HP:0002451 | Limb dystonia | |
| HP:0001300 | Parkinsonism | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0008760 | Violent behavior | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002072 | Chorea | |
| HP:0100543 | Cognitive impairment | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002015 | Dysphagia | |
| HP:0001288 | Gait disturbance | |
| HP:0030216 | Inertia | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0000618 | Blindness | |
| HP:0002312 | Clumsiness | |
| HP:0002359 | Frequent falls | |
| HP:0000648 | Optic atrophy | |
| HP:0000709 | Psychosis | |
| HP:0000488 | Retinopathy | |
| HP:0012473 | Tongue atrophy | |
Annotation source: 20301663[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/216873
- This record as JSON: /data/d/216873.json